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51.
Pulmonary mechanics were measured in 22 normal, full-term babies as soon as quiet, regular breathing was established. The method included construction of tidal resistance profiles, by which it was demonstrated that ‘air trapping’ is probably not the major factor in establishing and maintaining the functional residual capacity immediately after birth. 相似文献
52.
D J Field A D Milner I E Hopkin R J Madeley 《British medical journal (Clinical research ed.)》1985,290(6481):1539-1542
An epidemiological study was carried out in the current Nottingham health district to determine changes in both neonatal unit workload and in the infants requiring neonatal care during two study periods. All admissions for 1977 and again for the 12 months 1 April 1983 to 31 March 1984 were reviewed. Total numbers of admissions have shown roughly a 50% reduction because of a more rigorous admission policy locally. The admissions of infants of 33 weeks' gestation or less have shown a significant increase, while the overall survival of infants less than 33 weeks' gestation has improved. 相似文献
53.
Within the first 6 hours of life a consistent difference can be demonstrated between the TGV measured plethysmographically and the FRC measured using a helium dilution technique. This difference persists despite oxygen administration which has little or no effect on the lung volumes in this group of babies. 相似文献
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Wilcox WR Oliveira JP Hopkin RJ Ortiz A Banikazemi M Feldt-Rasmussen U Sims K Waldek S Pastores GM Lee P Eng CM Marodi L Stanford KE Breunig F Wanner C Warnock DG Lemay RM Germain DP;Fabry Registry 《Molecular genetics and metabolism》2008,93(2):112-128
Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. The Fabry Registry is a global clinical effort to collect longitudinal data on FD. In the past, most "carrier" females were usually thought to be clinically unaffected. A systematic effort has been made to enroll all FD females, regardless of symptomology. Of the 1077 enrolled females in the Registry, 69.4% had symptoms and signs of FD. The median age at symptom onset among females was 13 years, and even though 84.1% had a positive family history, the diagnosis was not made until a median age of 31 years. Twenty percent experienced major cerebrovascular, cardiac, or renal events, at a median age of 46 years. Among adult females with estimated glomerular filtration rate (eGFR) data (N=638), 62.5% had an eGFR <90 ml/min/1.73 m2 and 19.0% had eGFR <60 ml/min/1.73 m2. Proteinuria 300 mg/day was present in 39.0% of females, and 22.2% had >1 gram/day. Quality of life (QoL), as measured by the SF-36((R)) survey, was impaired at a later age than in males, but both genders experience significantly impaired QoL from the third decade of life onward. Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy. 相似文献
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Matsuda A Okayama Y Ebihara N Yokoi N Gao P Hamuro J Hopkin JM Kinoshita S 《Journal of immunological methods》2008,336(2):229-234
The high-affinity IgE receptor (FcepsilonRI)-beta gene is one of the atopy-associated genes, but its biological significance is largely unknown. In this study, we generated the anti-FcepsilonRI-beta chain antibody to clarify beta-chain protein expression in human mast cells. The FcepsilonRI-beta antibody showed specific binding to a 27 kDa protein with Western blotting and membrane bound immunostaining using cultured mast cells. Monomeric IgE sensitization increased beta-chain expression as well as mature alpha-chain expression in mast cells. Upregulation of beta-chain expression with monomeric IgE treatment suggests possible roles of FcepsilonRI-beta protein as an atopy-related molecule. 相似文献
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Sellars EA Zimmerman SL Smolarek T Hopkin RJ 《American journal of medical genetics. Part A》2011,155(6):1409-1413
We report on an infant with tetrasomy of 5q35.2-5q35.3, an interstitial triplication on one chromosome and normal complement on the other. The patient has some features of Hunter-McAlpine syndrome including intrauterine growth retardation (IUGR), almond-shaped eyes, epicanthal folds, and downturned mouth with thin vermillion of the upper lip. In addition, left ventricular noncompaction and absent thumbs were identified, which have never been described in Hunter-McAlpine syndrome. This chromosome abnormality is distinct from those previously reported. Within this region of tetrasomy is MSX2, a highly conserved homeobox containing gene. Increased copies of MSX2 have been previously associated with craniosynostosis. Our patient's only skeletal defect is absent thumbs, also potentially related to increased dosage of MSX2 which is important for limb formation. In addition, MSX2 is expressed in the developing heart and overexpression of this gene may disrupt the co-regulation of other cardiac genes in this region, namely CSX1. 相似文献